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Prof Aartsma-Rus separates the wheat from the scientific chaff. An overview of research papers for Duchenne & Becker MD in January 2021.

Monthly #apaperaday wrap-up: January 2022

Prof. Annemieke Aartsma-Rus is taking on a challenge by reading and commenting on a paper a day. She shares her insights, findings and thoughts via her @oligogirl Twitter account. Each month, a curated selection of the relevant papers for Duchenne and Becker muscular dystrophy are presented by the World Duchenne Organization. See below the overview of January 2022.

Must reads

  • Stem Cells Translational Medicine on stem cell transplantation of chimeric human myoblasts IN a MOUSE model. Read more >
  • Advances and applications on viltolarsen by Roshmi and Prof. Toshi Yokota. Read more > 
  • Ataluren treatment for symptomatic carriers and ataluren treatment of a very young male patient. Read more >
  • Stereopure antisense oligonucleotides (ASO) for Duchenne exon skipping. Read more >

Very interesting papers

  • A study on astrocyte properties in cells with and without dystrophin. Read more >
  • Proper use of animal model data for orphan drug designation. Joint effort of regulators on personal title. Read more >
  • Different aspects of COVID-19 in Duchenne patients in Poland. Read more > 
  • Testing if sulforaphane (SFN) can improve skeletal muscle and gastric muscle function in mdx mice. Read more >
  • Repurposing of Medicines in the EU: Launch of a Pilot Framework. Read More >

Additional reading

  • The impact of high intensity training in d2/mdx mice on muscle force, resistance to eccentric exercise and heart function. Read more >
  • Ataluren treatment for symptomatic carriers and ataluren treatment of a very young male patient. Read more >
  • Duchenne mutations and their relationship to disease progression today with a focus on heart pathology. Read more >

We are grateful for prof. Aartsma-Rus for allowing us to share her daily recaps. Follow @oligogirl on Twitter to stay on top of the latest #apaperaday tweets.


About professor Annemieke Aartsma-Rus

Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).

Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy. In addition, in collaborative efforts she aims to bridge the gap between different stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases.

In 2013 she was elected a member of the junior section of the Dutch Royal Academy of Sciences (KNAW), which consists of what are considered the top 50 scientists in the Netherlands under 45. From 2015 to 2022, she was selected as the most influential scientist in Duchenne muscular dystrophy by Expertscape.